Canonical Allele Identifier: CA388023646

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513203C>A (hg19) ; chr13:g.51939067C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939067C>A , CM000675.2:g.51939067C>A	GRCh38
NC_000013.10:g.52513203C>A , CM000675.1:g.52513203C>A	GRCh37
NC_000013.9:g.51411204C>A	NCBI36
NG_008806.1:g.77428G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1333G>T	ENSP00000489512.2:n.*1333G>T
ENST00000673864.2:c.*2427G>T	ENSP00000501045.2:n.*2427G>T
ENST00000674147.2:c.3062G>T	ENSP00000500964.2:p.Arg1021Ile
ENST00000242839.10:c.3683G>T MANE Select	ENSP00000242839.5:p.Arg1228Ile
ENST00000344297.9:c.3062G>T	ENSP00000342559.5:p.Arg1021Ile
ENST00000400366.6:c.3350G>T	ENSP00000383217.3:p.Arg1117Ile
ENST00000448424.7:c.3431G>T	ENSP00000416738.3:p.Arg1144Ile
ENST00000673696.1:n.924G>T
ENST00000673772.1:c.3449G>T	ENSP00000501168.1:p.Arg1150Ile
ENST00000673867.1:n.3822G>T
ENST00000673923.1:n.549G>T
ENST00000674147.1:c.2618G>T	ENSP00000500964.1:p.Arg873Ile
ENST00000242839.8:c.3683G>T	ENSP00000242839.4:p.Arg1228Ile
ENST00000344297.8:c.3062G>T	ENSP00000342559.5:p.Arg1021Ile
ENST00000400366.5:c.3350G>T	ENSP00000383217.3:p.Arg1117Ile
ENST00000400370.8:c.2393G>T	ENSP00000383221.3:p.Arg798Ile
ENST00000418097.7:c.3488G>T	ENSP00000393343.2:p.Arg1163Ile
ENST00000448424.6:c.3449G>T	ENSP00000416738.2:p.Arg1150Ile
ENST00000634296.1:c.1461G>T
ENST00000634308.1:c.*784G>T	ENSP00000489234.1:n.*784G>T
ENST00000634620.1:n.4427G>T
ENST00000634810.1:n.3028G>T
ENST00000634844.1:c.3539G>T	ENSP00000489398.1:p.Arg1180Ile
NM_000053.3:c.3683G>T	NP_000044.2:p.Arg1228Ile
NM_001005918.2:c.3062G>T	NP_001005918.1:p.Arg1021Ile
NM_001243182.1:c.3350G>T	NP_001230111.1:p.Arg1117Ile
XM_005266423.2:c.3587G>T	XP_005266480.1:p.Arg1196Ile
XM_005266424.3:c.3587G>T	XP_005266481.1:p.Arg1196Ile
XM_005266427.2:c.3449G>T	XP_005266484.1:p.Arg1150Ile
XM_005266428.1:c.3431G>T	XP_005266485.1:p.Arg1144Ile
XM_005266430.3:c.3683G>T	XP_005266487.1:p.Arg1228Ile
XM_005266431.2:c.3647G>T	XP_005266488.1:p.Arg1216Ile
XM_005266432.2:c.3197G>T	XP_005266489.1:p.Arg1066Ile
XM_006719837.2:c.3587G>T	XP_006719900.1:p.Arg1196Ile
XM_006719838.1:c.1499G>T	XP_006719901.1:p.Arg500Ile
XM_006719839.1:c.1316G>T	XP_006719902.1:p.Arg439Ile
XM_011535117.1:c.3587G>T	XP_011533419.1:p.Arg1196Ile
XM_011535118.1:c.3548G>T	XP_011533420.1:p.Arg1183Ile
XM_011535119.1:c.3500G>T	XP_011533421.1:p.Arg1167Ile
XM_011535120.1:c.3269G>T	XP_011533422.1:p.Arg1090Ile
XM_011535121.1:c.3170G>T	XP_011533423.1:p.Arg1057Ile
XM_011535122.1:c.2351G>T	XP_011533424.1:p.Arg784Ile
XR_941601.1:n.3902G>T
XR_941602.1:n.3902G>T
XR_941603.1:n.3902G>T
XR_941604.1:n.3902G>T
NM_001330578.1:c.3449G>T	NP_001317507.1:p.Arg1150Ile
NM_001330579.1:c.3431G>T	NP_001317508.1:p.Arg1144Ile
XM_005266424.4:c.3587G>T	XP_005266481.1:p.Arg1196Ile
XM_005266430.4:c.3683G>T	XP_005266487.1:p.Arg1228Ile
XM_005266431.4:c.3647G>T	XP_005266488.1:p.Arg1216Ile
XM_006719837.3:c.3587G>T	XP_006719900.1:p.Arg1196Ile
XM_011535117.3:c.3587G>T	XP_011533419.1:p.Arg1196Ile
XM_017020627.1:c.3587G>T	XP_016876116.1:p.Arg1196Ile
NM_000053.4:c.3683G>T MANE Select	NP_000044.2:p.Arg1228Ile
NM_001005918.3:c.3062G>T	NP_001005918.1:p.Arg1021Ile
NM_001330579.2:c.3431G>T	NP_001317508.1:p.Arg1144Ile
NM_001243182.2:c.3350G>T	NP_001230111.1:p.Arg1117Ile
NM_001330578.2:c.3449G>T	NP_001317507.1:p.Arg1150Ile